TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.
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DOI：
10.1136/jmg-2022-108654
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发表时间：
2022-12
影响因子：
4
通讯作者：
中科院分区：
文献类型：
--
作者：
众所周知，TMPRSS3 的双等位基因突变会导致听力损失。目前，对于 TMPRSS3 相关听力损失的人工耳蜗植入 (CI) 后的听力结果存在争议。这一争议让医疗保健提供者对 TMPRSS3 相关听力损失患者的最佳治疗方案产生了困惑。我们进行了文献综述，以确定所有已发表的接受 CI 的 TMPRSS3 相关听力损失患者的病例。使用术后辅音-核-辅音 (CNC) 单词表现将该队列的 CI 结果与已发表的成人 CI 队列进行比较。通过使用杂交链式反应 (HCR) 和单细胞 RNA 测序分析来确定小鼠耳蜗和人类听觉神经 (AN) 中的 TMPRSS3 表达。总共有 27 名患有 TMPRSS3 相关听力损失的患者（总共 30 只 CI 耳）接受了 CI 治疗，其中 85% 的患者报告了良好的结果。 TMPRSS3 相关听力损失患者的术后 CNC 单词评分与成人 CI 队列中的评分没有显着差异（8 项研究）。 Tmprss3 的强表达出现在整个小鼠 Corti 器官、侧壁的纺锤体和根细胞中，并且在 <5% 的 AN 内出现微弱染色，代表 II 型螺旋神经节神经元。成人 AN 表达的 TMPRSS3 水平可以忽略不计。 CI 后的临床特征和 TMPRSS3 的生理表达表明 TMPRSS3 在听觉神经元中不发挥主要作用。
It is well established that biallelic mutations in TMPRSS3 cause hearing loss. Currently, there is controversy regarding the audiological outcomes after cochlear implantation (CI) for TMPRSS3-associated hearing loss. This controversy creates confusion amongst healthcare providers regarding the best treatment options for individuals with TMPRSS3-related hearing loss. A literature review was performed to identify all published cases of patients with TMPRSS3-associated hearing loss who received a CI. CI outcomes of this cohort were compared to published adult CI cohorts using post-operative consonant-nucleus-consonant (CNC) word performance. TMPRSS3 expression in mouse cochlea and human auditory nerves (ANs) was determined by using hybridization chain reaction (HCR) and single-cell RNA-sequencing analysis. In aggregate, 27 patients (30 total CI ears) with TMPRSS3-associated hearing loss treated with CI, and 85% of patients reported favorable outcomes. Post-operative CNC word scores in patients with TMPRSS3-associated hearing loss were not significantly different than those seen in adult CI cohorts (8 studies). Robust Tmprss3 expression occurs throughout the mouse organ of Corti, the spindle and root cells of the lateral wall, and faint staining within <5% of the ANs, representing type II spiral ganglion neurons. Adult human ANs express negligible levels of TMPRSS3. The clinical features after CI and physiologic expression of TMPRSS3 suggest against a major role of TMPRSS3 in auditory neurons.
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影响因子：
16.6
作者：
Giese APJ;Tang YQ;Sinha GP;Bowl MR;Goldring AC;Parker A;Freeman MJ;Brown SDM;Riazuddin S;Fettiplace R;Schafer WR;Frolenkov GI;Ahmed ZM
通讯作者：
Ahmed ZM
影响因子：
2.6
作者：
Battelino, Saba;Klancar, Gasper;Podkrajsek, Katarina Trebusak
通讯作者：
Podkrajsek, Katarina Trebusak
影响因子：
9.8
作者：
Azaiez H;Booth KT;Ephraim SS;Crone B;Black-Ziegelbein EA;Marini RJ;Shearer AE;Sloan-Heggen CM;Kolbe D;Casavant T;Schnieders MJ;Nishimura C;Braun T;Smith RJH
通讯作者：
Smith RJH
DOI：
10.1038/gim.2015.89
发表时间：
2016-04
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Bademci G;Foster J 2nd;Mahdieh N;Bonyadi M;Duman D;Cengiz FB;Menendez I;Diaz-Horta O;Shirkavand A;Zeinali S;Subasioglu A;Tokgoz-Yilmaz S;Huesca-Hernandez F;de la Luz Arenas-Sordo M;Dominguez-Aburto J;Hernandez-Zamora E;Montenegro P;Paredes R;Moreta G;Vinueza R;Villegas F;Mendoza-Benitez S;Guo S;Bozan N;Tos T;Incesulu A;Sennaroglu G;Blanton SH;Ozturkmen-Akay H;Yildirim-Baylan M;Tekin M
通讯作者：
Tekin M
影响因子：
3.9
作者：
Guipponi, Michel;Toh, Min-Yen;Scott, Hamish S.
通讯作者：
Scott, Hamish S.